scholarly journals Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

2021 ◽  
Author(s):  
Maurício Rouvel Nunes ◽  
Tiago Godói Pereira ◽  
Henry Victor Dutra Correia ◽  
Simone Travi Canabarro ◽  
Ana Paula Vanz ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Turner Syndrome ◽  
Clinical Genetics ◽  
Cross Sectional

scholarly journals 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

2014 ◽  
Vol 132 (6) ◽  
pp. 332-338 ◽  
Author(s):  
Rafael Fabiano Machado Rosa ◽  
Willy Francisco Bartel D'Ecclesiis ◽  
Raquel Papandreus Dibbi ◽  
Rosana Cardoso Manique Rosa ◽  
Patrícia Trevisan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Turner Syndrome ◽  
Early Recognition ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Referral Hospital ◽  
Clinical Genetics ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Individual

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.

Queixas de nutrizes que buscam atendimento em um banco de leite humano e fatores associados

2019 ◽  
Vol 87 (25) ◽  
Author(s):  
Lara Thaiane Souza Pereira ◽  
Taynara Cassimiro de Moura Alves ◽  
Nathalya da Silva Louro ◽  
Nayara Franklin Cesar ◽  
Juliana das Dores Ferreira ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Data Collection ◽  
Women's Health ◽  
Breast Feeding ◽  
Reliable Information ◽  
Previous Experience ◽  
Cross Sectional ◽  
Lactating Mothers ◽  
Milk Banks ◽  
Nutrient Conditions

O objetivo deste artigo é analisar as queixas de nutrizes que buscaram atendimento em um BLH e fatores associados.Trata-se de um estudo descritivo, analítico, transversal, retrospectivo, cuja população é composta por 1.709 nutrizes quebuscaram atendimento no período de Janeiro a Dezembro de 2016. Para a coleta de dados, utilizaram-se as fichas deatendimento do BLH. As principais queixas que levaram as nutrizes a buscarem atendimento no BLH relacionam-se àdificuldade com a técnica de amamentação (41,9%) e a problemas mamários, como o ingurgitamento mamário (27,1%) eo trauma mamilar (18,1%). A necessidade de auxílio na técnica de amamentação esteve associada às seguintes condiçõesrelativas à nutriz: ser procedente da capital (p=0,001), apresentar mais de oito anos de estudo (p=0,040), ter uma ocupação (p=0,010), ser primípara (p=<0,001), optar pela realização de parto cesárea (p=<0,001) e ter experiência préviacom amamentação (p=0,004). Houve associação entre ingurgitamento mamário e primiparidade (p=0,038), além do fatode a nutriz ter contado com o apoio ao aleitamento materno na maternidade (p=0,021). O estudo possibilitou verificar aimportância dos BLH no processo de lactação, um período em que as mulheres ficam ansiosas, necessitam de informaçõesconfiáveis e apresentam muitas queixas em relação à lactação.PALAVRAS-CHAVES : Aleitamento materno, Bancos de leite, Saúde da mulher. Abstract: The aim of this article is to analyze the complaints of lactating mothers who sought care in a HMB and associatedfactors. It is a descriptive, cross-sectional, retrospective study, whose population is composed of 1.709 lactating mothers whosought care in the period from January to December the 2016. For the data collection, were used the service records ofthe HMB. The main complaints that led the lactating mothers to seek care at HMB were related to the difficulty with thebreastfeeding technique (41.9%) and to breast problems, such as breast engorgement (27.1%) and nipple trauma (18,1%). Theneed for breastfeeding technique was associated to the following nutrient conditions: coming from the capital (p = 0.001),presenting more than eight years of study (p = 0.040), having an occupation (p = 0.010), being primiparous (p = <0.001), optfor cesarean (p = 0.001) and to have previous experience with breastfeeding (p = 0.004). There was an association betweenbreast engorgement and primiparity (p = 0.038), in addition to the fact that the mother had support for breastfeeding in thematernity ward (p = 0.021). The study made it possible to verify the importance of HMBs in the lactation process, a period inwhich women become anxious, require reliable information and have many complaints about lactation.Keywords: Breast feeding, Milk banks, Women’s health

Perioperative Use of Total Parenteral Nutrition: Variations in Guidelines and Practice in Three Norwegian Hospitals

1995 ◽  
Vol 11 (4) ◽  
pp. 741-749 ◽  
Author(s):  
Marianne Mjaaland ◽  
Arthur Revhaug ◽  
Olav Helge Førde
Keyword(s):  
Retrospective Study ◽  
Parenteral Nutrition ◽  
Total Parenteral Nutrition ◽  
Gastrointestinal Surgery ◽  
Patient Characteristics ◽  
Substantial Part ◽  
Cross Sectional

AbstractIn a cross-sectional, retrospective study of 604 cases, variations among three Norwegian hospitals in use of perioperative parenteral nutrition (TPN) after gastrointestinal surgery was determined. Postoperative TPN rates were 25%, 34% (p =.05) and 56% (p <.0001). respectively. However, a substantial part of the variation was explained by differences in patient characteristics.

Body image, self-perception and satisfaction among girls with Turner syndrome-A prospective cross-sectional study

2021 ◽  
Author(s):  
Nandini Vijayakanthi ◽  
David J Marcus ◽  
Sobha P Fritz ◽  
Yijin Xiang ◽  
Doris Fadoju
Keyword(s):  
Body Image ◽  
Turner Syndrome ◽  
Normal Population ◽  
Cross Sectional Study ◽  
Delayed Puberty ◽  
Self Perception ◽  
Satisfaction Scale ◽  
Cross Sectional ◽  
Population Norms ◽  
Final Adult Height

Abstract Objectives Delayed puberty & short stature in girls with Turner syndrome(TS) can lead to low body image, self-esteem & satisfaction. We aimed to evaluate body image, self-perception, and satisfaction among girls with TS using Multi-Dimensional Body Image Self Relations Questionnaire -Appearance Scale (MBSRQ-AS). Methods Patients with karyotype-proven diagnosis of TS between 15-21 years were included after they achieved final adult height. We used MBSRQ-AS instrument with 5 sub-scales: Appearance Evaluation(AE), Appearance Orientation(AO), Body Areas Satisfaction Scale(BASS), Overweight Preoccupation(OWP) and Self Classified Weight(SCW) sub-scales. Mean scores were compared to available sex matched population norms & compared between different sub-cohorts. Results Of 59 eligible girls, 37 girls agreed to participate with mean age : 17.35 ±1.6 years. Turner girls had significantly lower scores compared to sex-matched population norms in AO [mean(SD): 3.32(0.42) vs 3.91(0.6)]; (p&lt;0.001) and SCW [mean(SD): 3.26(0.71) vs 3.57(0.73); (p=0.01)] sub-scales. In contrast, they had slightly higher scores in BASS [ mean(SD): 3.38(0.74) vs 3.23(0.74); (p=0.23)] & OWP [mean(SD): 3.12(0.39) vs 3.03(0.96); (p=0.21)] sub-scales though not statistically significant. Girls with classic 45 X karyotype and those who were overweight/obese had lower scores in AE & AO sub-scales compared to normal population (p&lt;0.05). Conclusion Compared to sex-matched population norms, Turner girls are not reporting negative effects due to their appearance & report general satisfaction with most areas of their body; however, Turner girls with classic karyotype or who were obese/overweight were generally unhappy with their physical appearance. They also seem to not focus their attention on their appearance.

A cross-sectional study on the guideline adherence to antiemetic regimens for chemotherapy-induced nausea and vomiting: A single center retrospective study of 1000 patients.

2021 ◽  
Author(s):  
Cong Luo ◽  
Lei Chen ◽  
Qi Xu ◽  
Jingjing Li ◽  
Qing Wei ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Dose Intensity ◽  
Cross Sectional Study ◽  
Nausea And Vomiting ◽  
Common Symptom ◽  
Single Center ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Complete Control ◽  
Delayed Cinv

Abstract Background Chemotherapy-induced nausea and vomiting (CINV) is a common symptom in patients who undergoing chemotherapy, it is very important to control CINV to maintain dose intensity and patients' quality of life. To analyze the current situation of CINV for the tumor patients who undergoing chemotherapy, we used a cross-sectional survey to assess CINV status in those patients, and whether the drugs used by doctors in each department met the guidelines, and compared the incidence of acute and delayed CINV overall post-chemotherapy periods. Methods This was a single-center, cross-sectional retrospective study of patients with chemotherapy discharged from different departments of Zhejiang Cancer Hospital in China. Participants reported the occurrence, severity, and impact on daily life of nausea and vomiting from the day of chemotherapy administration up to 5 days, and physicians collected the clinical data from the medical records. Results Data were collected from 875 responses totally. In this study, the overall incidence rate of CINV was 44.34%, acute CINV was 24.57%, and delayed CINV was 39.66%. 19.89% patients had both acute and delayed CINV. The consistency rates of antiemetic with guideline in different departments showed significant gap between the actual usage of drugs and the recommended guidelines (P=0.001). In 875 patients, 518 patients received guideline recommended antiemetic regimen, the CINV rates of complete control (CC), defined as the absence of any symptoms, were 61.58%. While the CC rates in other 357 patients were 47.06%(P<0.001). Conclusion Overall, clinician adherence to antiemetic guideline recommendations in different departments remained poorly characterized with varying degrees. Future studies should focus on the complete rate as a primary end point rather than complete remission. The standardized management of CINV in patients need to be further strengthened and doctors need to use drugs more regularly to reduce the occurrence of CINV in patients.

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